nsv3923023
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:454,054
- Description:GRCh38/hg38 7q35(chr7:145744123-146198176)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1244 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1244 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 360 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923023 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 145,744,123 | 146,198,176 |
| nsv3923023 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 145,441,216 | 145,895,268 |
| nsv3923023 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 145,072,149 | 145,526,201 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138837 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000143418.5, VCV000155351.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138837 | Submitted genomic | NC_000007.14:g.(?_ 145744123)_(146198 176_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 145,744,123 | 146,198,176 |
| nssv15138837 | Submitted genomic | NC_000007.13:g.(?_ 145441216)_(145895 268_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 145,441,216 | 145,895,268 |
| nssv15138837 | Submitted genomic | NC_000007.12:g.(?_ 145072149)_(145526 201_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,072,149 | 145,526,201 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138837 | GRCh37: NC_000007.13:g.(?_145441216)_(145895268_?)del, GRCh38: NC_000007.14:g.(?_145744123)_(146198176_?)del, NCBI36: NC_000007.12:g.(?_145072149)_(145526201_?)del | copy number loss | not provided | See cases | conflicting data from submitters | ClinVar | RCV000143418.5, VCV000155351.2 | 1 |